Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.R267Q
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KRT1

NM_006121.4:p.R267Q

Associated Papers

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

Terron-Kwiatkowski A et al.

The Journal of Investigative Dermatology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."